ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827778208
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1483285
ClinVar RCV Id:
RCV001998703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Lys1979Glu
CA1942620
NM_001353954.2:c.5935A>G